Journals / Ege Tıp Dergisi / 1996 / Cilt: 35 - Sayı: 3

Achondrogenesis type IA ( Houston-Harris type ): Case report

Akondrogenez tip-IA ( Houston-Harris tipi ): Olgu sunumu

Pages
165–168
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

An autopsy case with a diagnosis of achondrogenesis Type IA is presented and related literature was reviewed.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Achondrogenesis Type I, a short trunk chondrodysplasia, is a usually fatal disorder with autosomal recessive inheritance.
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Key Findings & Data:Achondrogenesis Type I, a short trunk chondrodysplasia, is a usually fatal disorder with autosomal recessive inheritance.
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Conclusion & Impact:An autopsy case with a diagnosis of achondrogenesis Type IA is presented and related literature was reviewed.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Achondrogenesis Type I, a short trunk chondrodysplasia, is a usually fatal disorder with autosomal recessive inheritance. An autopsy case with a diagnosis of achondrogenesis Type IA is presented and related literature was reviewed.

Özet

Akondrogenez tip I kısa gövdeli kondrodisplaziler grubunda yer alan fatal, otozomal resessif geçişli bir bozukluktur. Yapılan otopsi sonucunda akondrogenez tip I A tanısı alan olgu sunuldu ve konu ile ilgili kaynaklar gözden geçirildi.

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Cite This Article

VARDAR, E., POSTACI, H., KANDİLOĞLU, A. R., COŞKUN, K., ŞAHİN, T. (1996). Achondrogenesis type IA ( Houston-Harris type ): Case report. Ege Tıp Dergisi, Cilt: 35 - Sayı: 3, 165–168. https://ajindex.com/articles/223259